Understanding Adrenogenital Syndrome in Children
This video discusses adrenogenital syndrome, its causes, clinical features in children, different types, investigations, and diagnosis.
00:00:00 This video discusses adrenogenital syndrome, its causes, clinical features in children, different types, investigations, and diagnosis. Important examination questions are also addressed.
🔑 Adrenogenital syndrome is an autosomal recessive disorder characterized by excess adrenal androgens, deficiency of cortisol and aldosterone, and increase in 17-ketosteroids and dihydroxy testosterone.
📚 Clinical features of adrenogenital syndrome include precocious puberty in male children, genital abnormalities in both male and female children, and amniotic fluid abnormalities.
🔬 Diagnosis of adrenogenital syndrome involves investigations such as 21-hydroxylase screening tests at birth and lab features showing increased levels of adrenal androgens.
00:01:54 The video discusses adrenogenital syndrome, specifically focusing on 21-hydroxylase deficiency. It explains the symptoms in both male and female children, including ambiguous genitalia, hirsutism, and accelerated growth.
🔑 Adrenogenital syndrome is mainly caused by 21-hydroxylase deficiency.
🌸 In female children, this deficiency leads to ambiguous genitalia, hirsutism, hypogonadism, and accelerated growth.
🧒 In male children, it causes precocious puberty, small testes, and short stature.
00:03:47 Adrenogenital syndrome is caused by a deficiency of the 21-hydroxylase enzyme, leading to decreased aldosterone and cortisol synthesis. This results in sodium loss, hyperkalemia, increased androgen production, and cardiovascular collapse.
❗️ Adrenogenital syndrome is caused by a deficiency in 21-hydroxylase enzyme, leading to a backup of progesterone and 17 hydroxyprogesterone.
⚙️ This deficiency blocks the synthesis of aldosterone and cortisol, resulting in sodium loss, hyperkalemia, and increased androgen production.
🔬 The conversion of progesterone and 17 hydroxyprogesterone is hindered in both the aldosterone and cortisol synthesis pathways.
00:05:40 Summary: Adrenogenital syndrome is caused by a deficiency in cortisol production, leading to increased production of androgens. This results in adrenal gland hypertrophy, hyperplasia, and skin pigmentation. Different types of enzyme deficiencies lead to varying effects on hormone production.
Adrenogenital syndrome is caused by a deficiency in 21-hydroxylase, leading to an increase in androgens.
The lack of cortisol in adrenogenital syndrome results in the overproduction of ACTH, leading to adrenal gland hypertrophy and hyperplasia.
Both 21-hydroxylase deficiency and 11-beta-hydroxylase deficiency cause an increase in androgens, but the latter also leads to increased deoxycorticosterone production and hypertension with hypokalemia.
00:07:34 A concise summary of the video is that adrenogenital syndrome, specifically 21-hydroxylase deficiency, leads to an increase in androgens and a decrease in aldosterone. This results in physical findings such as clitoral hypertrophy and lab investigations show increased 17-keto steroids.
🔑 Adrenogenital syndrome is caused by 21-hydroxylase deficiency, which leads to an increase in androgen levels.
⚡ In 11-beta hydroxylase deficiency, there is an increase in deoxycortisol, causing hypertension and hypokalemia.
🩺 The diagnosis of adrenogenital syndrome involves physical findings such as clitoral hypertrophy and labia fusion, as well as episodes of acute adrenal insufficiency.
🧪 Lab investigations for 21-hydroxylase deficiency show increased 17-ketosteroids, plasma DHEA, and hydroxyprogesterone, with a decrease in corticosteroids.
00:09:29 Adrenogenital Syndrome is characterized by decreased aldosterone and cortisol levels, leading to hyperkalemia and hyponatremia. It causes precocious puberty in male children, low gonadotropins and testes size. 21-hydroxylase deficiency results in 17-hydroxy steroids, while 19-hydroxylase deficiency results in 17-keto steroids.
🔑 Adrenogenital syndrome is characterized by a deficiency in 21-hydroxylase, leading to decreased aldosterone and cortisol levels.
🚹 In males with adrenogenital syndrome, precocious puberty may occur, accompanied by low levels of gonadotrophins and luteinizing hormone, small testes, and oligoar.
🔬 The difference between 17-hydroxy steroids and 17-keto steroids lies in the presence of a hydroxyl group or a keto group on the carbon atom number 17.
00:11:21 This video discusses the lab findings in precocious puberty in male children with adrenogenital syndrome. It explains the increased androgens, low testosterone and LH, small testes, and the production of adrenal hormones.
📌 In male children with precocious puberty, there is an increase in androgens, low GnRH, low LH, small testes, and azoospermia.
📌 The highest quantity of adrenal hormones produced are cortisol (20 mg per day) and DHEA (15 to 20 mg per day).
📌 Adrenogenital syndrome is characterized by increased androgens production due to 21-hydroxylase deficiency.
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